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Phosphoserine aminotransferase deficiency, infantile/juvenile form

Disease definition

A rare form of serine deficiency syndrome characterized clinically by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.

ORPHA:284417

Classification level: Subtype of disorder
  • Synonym(s):
    • PSAT deficiency, infantile/juvenile form
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E72.8
  • OMIM: 610992
  • UMLS: C1970253
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Deutsch (2012) Español (2012) Français (2012) Italiano (2012) Nederlands (2012)

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